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237770005: Syndrome of apparent mineralocorticoid excess (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356333019 Syndrome of apparent mineralocorticoid excess en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626545016 Syndrome of apparent mineralocorticoid excess (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3968445018 AME - apparent mineralocorticoid excess en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3968446017 Apparent mineralocorticoid excess en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3968447014 11-beta-hydroxysteroid dehydrogenase deficiency type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3968448016 Ulick syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3968449012 A rare form of pseudohyperaldosteronism with characteristics of very early-onset and severe hypertension associated with low renin levels and hypoaldosteronism. Caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). In all cases, these mutations lead to abolition or a marked decrease in the activity of 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2), an enzyme involved in the conversion of cortisol to cortisone. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndrome of apparent mineralocorticoid excess Is a Disorder of cortisol-cortisone shuttle true Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Finding site Adrenal structure true Inferred relationship Some 1
Syndrome of apparent mineralocorticoid excess Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Is a Hereditary disorder by system false Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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